SCN1A c.2675del ;(p.N892Ifs*2)

Variant ID: 2-166894556-AT-A

NM_001165963.1(SCN1A):c.2675del;(p.N892Ifs*2)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

Plos Genetics
Singh, Nanda A NA; Pappas, Chris C; Dahle, E Jill EJ; Claes, Lieve R F LR; Pruess, Timothy H TH; De Jonghe, Peter P; Thompson, Joel J; Dixon, Missy M; Gurnett, Christina C; Peiffer, Andy A; White, H Steve HS; Filloux, Francis F; Leppert, Mark F MF
Publication Date: 2009-09

Variant appearance in text: SCN1A: 2675delA; N892fsX2
PubMed Link: 19763161
Variant Present in the following documents:
  • Main text
  • pgen.1000649.pdf
View BVdb publication page